Author: Athul

The triad of alkaptonuria refers to three main clinical features associated with the condition. Alkaptonuria is a rare inherited metabolic disorder characterized by the body’s inability to properly break down certain amino acids, resulting in the accumulation of a substance called homogentisic acid. The triad of alkaptonuria includes: Dark urine: One of the earliest and […]

Alkaptonuria is a rare inherited disorder characterized by the accumulation of a substance called homogentisic acid (HGA) in the body. The condition is caused by a defect in the enzyme homogentisate 1,2-dioxygenase (HGD), which is responsible for breaking down HGA. Normally, HGA is produced as a byproduct during the breakdown of certain amino acids, particularly […]

The etiology of alkaptonuria is a genetic mutation that affects the HGD gene, which provides instructions for producing an enzyme called homogentisate 1,2-dioxygenase. This enzyme is involved in the breakdown of an amino acid called phenylalanine. In individuals with alkaptonuria, a specific mutation in the HGD gene leads to a deficiency or complete absence of […]

In alkaptonuria, the enzyme that is deficient or absent is called homogentisate 1,2-dioxygenase (HGD). Homogentisate 1,2-dioxygenase is responsible for breaking down an amino acid called phenylalanine and a related compound called tyrosine. Without functional HGD, these compounds are not properly metabolized, leading to the accumulation of a substance called homogentisic acid in the body. The […]

Alkaptonuria is a rare genetic disorder characterized by the body’s inability to properly break down certain amino acids, specifically phenylalanine and tyrosine. This results in the accumulation of a substance called homogentisic acid in the body. Individuals with alkaptonuria lack an enzyme called homogentisate 1,2-dioxygenase, which is responsible for metabolizing homogentisic acid. As a result, […]

Alkaptonuria is a rare genetic disorder that affects the metabolism of a substance called homogentisic acid. The main symptoms of alkaptonuria are primarily related to the accumulation of this acid in the body. Here are the main symptoms associated with alkaptonuria: Dark Urine: One of the earliest signs of alkaptonuria is the presence of dark […]

Alkaptonuria is a rare genetic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD). This enzyme is responsible for the breakdown of an amino acid called phenylalanine and a related compound called tyrosine. In individuals with alkaptonuria, the HGD enzyme is either absent or not functioning properly, leading to a buildup of a […]

“Age-wise diseases” refers to health conditions or diseases that are more commonly associated with particular age groups. Different age groups may have specific diseases or conditions that are more prevalent or have a higher likelihood of occurrence due to factors such as physiological changes, lifestyle, or environmental factors. Here are some examples of age-wise diseases: […]

To say that someone doesn’t look their age, you can use various phrases or expressions to convey the idea. Here are a few examples: “You look younger than your age.” “You don’t look your age.” “You seem much younger than you actually are.” “You appear more youthful than your age suggests.” “You have a youthful […]

As of my knowledge cutoff in September 2021, there is currently no scientific evidence to support the notion that some individuals do not age. Aging is a natural and complex process that occurs in all living organisms, including humans. It involves various biological changes at the cellular, tissue, and organ levels. However, it is worth […]